ArticleAmerican journal of medical genetics. Part A2020
An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.
Article in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.
- Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.Genes · 2023Pooled it
- Health-related quality of life and medication use among individuals with Angelman syndrome.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2023Trial
- Loss of DrosophilaFly · 2026Article
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.Journal of neurodevelopmental disorders · 2026Review
- Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.Orphanet journal of rare diseases · 2025Article
- UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.Molecular autism · 2025Article
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Article
- Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.Molecular autism · 2024Article
- Successful use of cannabidiol in nonconvulsive status epilepticus in Angelman syndrome.Epilepsia open · 2024Article
- Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.Orphanet journal of rare diseases · 2024Article
- Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.Research square · 2024Article
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure.Journal of neurodevelopmental disorders · 2024Article
- Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.Journal of clinical medicine · 2024Article
- Developmental milestones and daily living skills in individuals with Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Exploring an objective measure of overactivity in children with rare genetic syndromes.Journal of neurodevelopmental disorders · 2024Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study presents a broad overview of health issues and psychomotor development of 100 children with Angelman syndrome (AS), seen at the ENCORE Expertise Center for AS in Rotterdam, the Netherlands. We aimed to further delineate the phenotype of AS, to evaluate the association of the phenotype with genotype and other determinants such as epilepsy and to get insight in possible targets for intervention. We confirmed the presence of a more severe phenotype in the 15q11.2-q13 deletion subtype. Novel findings were an association of (early onset of) epilepsy with a negative effect on development, a high occurrence of nonconvulsive status epilepticus, a high rate of crouch gait in the older children with risk of deterioration of mobility, a relatively low occurrence of microcephaly, a higher mean weight for height in all genetic subtypes with a significant higher mean in the nondeletion children, and a high occurrence of hyperphagia across all genetic subtypes. Natural history data are needed to design future trials. With this large clinical cohort with structured prospective and multidisciplinary follow-up, we provide unbiased data on AS to support further intervention studies to optimize outcome and quality of life of children with AS and their family.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.